Renal Tubulopathies and related disorders
Gene: HPRT1EnsemblGeneIds (GRCh38): ENSG00000165704
EnsemblGeneIds (GRCh37): ENSG00000165704
OMIM: 308000, Gene2Phenotype
HPRT1 is in 13 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
total of 46 LNS patients plus literature review on HPRT1 variants.
Clinical spectrum depends on enzyme deficiency; with complete loss associated with classical LNS while residual enzymatic activities are associated with overproduction of uric acid but no apparent neurological or behavioural deficits.Created: 16 Jun 2020, 12:36 a.m. | Last Modified: 16 Jun 2020, 12:36 a.m.
Panel Version: 0.3081
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
HPRT-related gout (MIM# 300323), Lesch-Nyhan syndrome (MIM# 300322)
Publications
- PMID: 20176575
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- HPRT-related gout (MIM# 300323)
- Lesch-Nyhan syndrome (MIM# 300322)
- OMIM
- 308000
- Clinvar variants
- Variants in HPRT1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Nucleotide metabolism disorders
- Additional findings_Paediatric
- Prepair 1000+
- Dystonia - complex
- Mendeliome
- BabyScreen+ newborn screening
- Renal Tubulopathies and related disorders
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cerebral Palsy
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: HPRT1 was added gene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: HPRT1 were set to 20176575 Phenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)